A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1
Copyright policy )A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1
SummaryEctodermal dysplasias (EDs) belong to a group of genetic diseases which result from alterations in ectoderm‐derived appendages including hair, nail, teeth and sweat glands. Ectodermal dysplasia syndactyly syndrome (EDSS1) is one of the rare forms of ED caused by mutations in nectin‐4, encoded by the PVRL4 gene. The present study described clinical investigation of the EDSS1 identified in a large consanguineous family. Furthermore, DNA sequence analysis revealed a novel homozygous nonsense mutation (181C>T, p.Asp61*) in the PVRL4 gene.
- National University of Science and Technology Zimbabwe
- Quaid-i-Azam University Pakistan
- Combined Military Hospital Pakistan
- Army Medical College Pakistan
- National University of Sciences and Technology Pakistan
Adult, Male, DNA Mutational Analysis, Consanguinity, Codon, Nonsense, Ectodermal Dysplasia, Humans, Female, Pakistan, Syndactyly, Cell Adhesion Molecules
Adult, Male, DNA Mutational Analysis, Consanguinity, Codon, Nonsense, Ectodermal Dysplasia, Humans, Female, Pakistan, Syndactyly, Cell Adhesion Molecules
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